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Genetic Disease

Genetic Disease. When mutations cause Problems. Genetics can contribute to disease process. Environment can enhance or suppress genetic expression. Mutations. Mutations are natural, random mistakes

phoebe-stanley
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Genetic Disease

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  1. Genetic Disease When mutations cause Problems

  2. Genetics can contribute to disease process • Environment can enhance or suppress genetic expression

  3. Mutations • Mutations are natural, random mistakes • Mutations can be produced unnaturally by exposure to mutagens like radiation and carcinogenic chemicals • Many mutations go unnoticed because the change is small and does not affect protein function. • Some mutations have positive effects on protein functions, these can be naturally selected by the environment an increase in frequency in future generations

  4. Types of mutations • Deletion: a piece of a chromosome is lost • Duplication: A piece remains attached after meiosis, leaving the gamete with 2 alleles for a gene • Inversion: a piece reattaches to a chromososme in reverse • Translocation: a piece of a chromosome ends up on a completely different (wrong) chromosome • Gene rearrangement: an entire gene moves to a different chromosome

  5. Other types of genetic change • Non disjunction: During meiosis chromosomes fail to separate properly, leaving some gametes with too many chromosomes, and some with too few. • Polyploidy: Non disjunction of all chromosomes, resulting in a doubling of the chromosome number. • 30-80% of plant species are polyploid

  6. Pedigree charts- tracking a disease through time

  7. Genetic Diseases found on autosomes—Some well known examples • Recessive alleles: • Albinism • Cystic fibrosis • Galactosemia • Phenylketonuria (PKU) • Tay Sachs Disease • Dominant Alleles: • Achondroplasia • Huntington’s disease • Hypercholesterolemia • Codominant Alleles: • Sickle Cell Disease • An example of Repetition mutation (autosomal): • Myotonic Muscular Dystrophy –a repeated section of DNA on either chromosome 19 or 3

  8. Genetic disease found on sex chromosomes • Duchennes Muscular dystrophy- x linked recessive • Colorblindness- x linked recessive • Hemophilia-x linked recessive • Fragile X syndrome x linked recessive • Hyphophophatic rickets- x linked dominant • Rett’s syndrome-x linked dominant

  9. Genetic Disease caused by nondisjunction • Down’s syndrome Triosomy 21-extra chromosome # 21 • Turner’s Syndrome- XO infertility, undeveloped sex organs • Klinefelters syndrome XXY, XXXY, XXXXY infertility, underdeveloped testes • XYY syndrome weak muscle tone, behavioral and learning disabilities

  10. A few more… • Marfan’s syndrome • Hemochromatosis • Breast Cancer • Alzheimers Mitochondrial genetic disorders: • myoclonus epilepsy with Ragged Red Fibers • mitochondrial encephalopathy, lactic acidosis • Leber's hereditary optic atrophy

  11. Human Genome Project An ongoing global effort to analyze the human gene sequence So far they know: • About 25,000 gene locations • The base pair sequences • The location of DNA repeats between genes • The location of the genetic “culprit” involved in many genetic diseases

  12. Human Genome Project is ongoing • NCBI • Scientists use open databases to further research • AdrenoleukodystrophyALDX Alzheimer disease, type 3 AD314 Alzheimer disease, type 4 AD41 Amyotrophic lateral sclerosis SOD121 Apolipoprotein E APOE19 Ataxia telangiectasiaATM11 Breast cancer, type 1 BRCA117 Breast cancer, type 2 BRCA213 Burkitt lymphoma MYC8 Colon cancer, nonpolyposis, type 1 MSH22 Colon cancer, nonpolyposis, type 2 MLH13 Cystic fibrosis CFTR7 DiGeorge syndrome DGS22 Diastrophic dysplasia DTD5 Duchenne muscular dystrophy DMDX Ellis-van Creveld syndrome EVC4 Gaucher disease GBA1 Gyrate atrophy of the choroid and retina OAT10 Harvey rasoncogeneHRAS11 Huntington disease HD4 Juvenile onset diabetes IDDM16 Long QT syndrome LQT111 Malignant melanoma CDKN29 Marfan syndrome FBN115 Menkes syndrome ATP7AX Multiple endocrine neoplasiaMEN2A10 Myotonic dystrophy DM19 Neurofibromatosis, type 2 NF222 Obesity OBS7 PhenylketonuriaPAH12 Polycystic kidney disease PKD116 Retinoblastoma, type 1 RB113 Severe combined immunodeficiency ADA20 Small cell lung carcinoma SCLC13 Spinocerebellar atrophy SCA16 Steroid 5-alpha-reductase-1 SRD5A15 Suppressor of pancreatic carcinoma DPC418 Testis-determining factor TDFY Tuberous sclerosis TSC19 Tumor suppressor protein p53 TP5317 Von Hippel-Lindau syndrome VHL3 Waardenberg syndrome PAX32 Werner syndrome WRN8 Wilson disease ATP7B13 X-linked mental retardation FMR1X Zellweger syndrome PXR112

  13. Got Ethics? • What ethical questions need to be considered as genetic research progresses?

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